"Revvity Omics, Revvity"[submitter] AND "LTBP3"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433537	NM_001130144.3(LTBP3):c.3908G>A (p.Arg1303His)	LTBP3 (R1139H +2 more)	Single nucleotide variant (missense variant)	Brachyolmia-amelogenesis imperfecta syndrome +1 more	GUncertain significance
Select item 1324686	NM_001130144.3(LTBP3):c.3574G>T (p.Glu1192Ter)	LTBP3 (E1028* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 235446	NM_001130144.3(LTBP3):c.3364C>T (p.Gln1122Ter)	LOC130006027, LTBP3 (Q1122*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 452796	NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)	LTBP3 (N686K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2433536	NM_001130144.3(LTBP3):c.1687A>C (p.Ser563Arg)	LTBP3 (S446R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2307468	NM_001130144.3(LTBP3):c.671C>G (p.Pro224Arg)	LTBP3 (P107R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

ClinVar